rs45511401
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP3BP4_StrongBA1
The ENST00000399410.8(ABCC1):c.2012G>T(p.Gly671Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0466 in 1,613,958 control chromosomes in the GnomAD database, including 1,957 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000399410.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCC1 | NM_004996.4 | c.2012G>T | p.Gly671Val | missense_variant | 16/31 | ENST00000399410.8 | NP_004987.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCC1 | ENST00000399410.8 | c.2012G>T | p.Gly671Val | missense_variant | 16/31 | 1 | NM_004996.4 | ENSP00000382342 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0358 AC: 5449AN: 152128Hom.: 131 Cov.: 32
GnomAD3 exomes AF: 0.0380 AC: 9480AN: 249312Hom.: 258 AF XY: 0.0388 AC XY: 5253AN XY: 135260
GnomAD4 exome AF: 0.0477 AC: 69742AN: 1461712Hom.: 1826 Cov.: 31 AF XY: 0.0471 AC XY: 34222AN XY: 727168
GnomAD4 genome AF: 0.0358 AC: 5446AN: 152246Hom.: 131 Cov.: 32 AF XY: 0.0343 AC XY: 2553AN XY: 74426
ClinVar
Submissions by phenotype
Atorvastatin response Other:1
drug response, no assertion criteria provided | in vitro | Pharmacometrics, Pharmacogenomics, Pharmacokinetics Research Group, Catholic University of Louvain | Apr 13, 2022 | functional variant - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at